Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion> ?p ?o ?g. }
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- NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion type Assertion NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_head.
- NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion description "[We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_provenance.
- NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion evidence source_evidence_literature NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_provenance.
- NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion SIO_000772 18089698 NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_provenance.
- NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion wasDerivedFrom befree-2016 NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_provenance.
- NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_assertion wasGeneratedBy ECO_0000203 NP645905.RAuD1AiK7OerPmxX067p3c7S6lTjqmJfGUiu2J87RF3Qc130_provenance.